Hypertrophic pyloric stenosis may cause almost complete gastric outlet obstruction. It affects 2 to 3 out of 1000 infants and is more common among males by a 5:1 ratio, particularly firstborn males. It occurs most often between 3 weeks and 6 weeks of age and rarely after 12 weeks.
The exact etiology of hypertrophic pyloric stenosis is uncertain, but a genetic component is likely because siblings and offspring of affected people are at increased risk, particularly monozygotic twins. Maternal smoking during pregnancy also increases risk. Proposed mechanisms include lack of neuronal nitric oxide synthase, abnormal innervation of the muscular layer, and hypergastrinemia. Infants exposed to certain macrolide antibiotics (eg, erythromycin) in the first few weeks of life are at significantly increased risk. Some studies have noted increased risk in bottle-fed infants compared to breastfed infants, but it is not clear whether this risk is associated with a change in feeding method or with the type of feeding.
Symptoms of hypertrophic pyloric stenosis typically develop between 3 weeks and 6 weeks of life. Projectile vomiting (without bile) occurs shortly after eating. Until dehydration sets in, children feed avidly and otherwise appear well, unlike many of those with vomiting caused by systemic illness. Gastric peristaltic waves may be visible, crossing the epigastrium from left to right. A discrete, 2- to 3-cm, firm, movable, and olive-like pyloric mass is sometimes palpable deep in the right side of the epigastrium. With progression of illness, children fail to gain weight, become malnourished, and develop dehydration.
Hypertrophic pyloric stenosis should be suspected in all infants in the first several months of life with projectile vomiting.
Diagnosis of hypertrophic pyloric stenosis is by abdominal ultrasonography showing increased thickness of the pylorus (typically to ≥ 4 mm; normal, < 2 mm) along with an elongated pylorus (> 16 mm).
If the diagnosis remains uncertain, ultrasonography can be repeated serially or an upper gastrointestinal series can be done, which typically shows delayed gastric emptying and a string sign or railroad track sign of a markedly narrowed, elongated pyloric lumen. In rare cases, upper endoscopy is required for confirmation.
Initial treatment of hypertrophic pyloric stenosis is directed at hydration and correcting electrolyte abnormalities.
Definitive treatment is a longitudinal pyloromyotomy, which leaves the mucosa intact and separates the incised muscle fibers. Postoperatively, the infant usually tolerates feeding within a day. Nonsurgical therapy using a feeding tube passed beyond the pylorus is not considered a good alternative because of the efficacy and safety of pyloromyotomy.